| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Marie-Pier Roussel, Aymeric Ravel-Chapuis, Jonathan Gobin, Bernard J Jasmin, Jean-Philippe Leduc-Gaudet, Cynthia Gagnon, Elise Duchesn. Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study. Journal of neuromuscular diseases. 2024-07-20. PMID:39031377. |
myotonic dystrophy type 1 (dm1) is a slowly progressive disease caused by abnormal ctg repetitions on the dystrophia myotonica protein kinase (dmpk) gene. |
2024-07-20 |
2024-07-24 |
Not clear |
| Bryce A Seifert, Honey V Reddi, Benjamin E Kang, Lora J H Bean, Amy Shealy, Nancy C Ros. Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics. 2024-06-05. PMID:38836869. |
dm1 is an autosomal dominant condition, resulting from an unstable ctg expansion in the 3'-untranslated region of the myotonic dystrophy protein kinase (dmpk) gene. |
2024-06-05 |
2024-06-07 |
Not clear |
| Jenna Damon, Colby Chase, Tomoyasu Higashimot. Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing. American journal of medical genetics. Part A. 2024-05-06. PMID:38709060. |
myotonic dystrophy type 1 is an autosomal dominant condition due to a ctg repeat expansion in the myotonic dystrophy protein kinase (dmpk) gene. |
2024-05-06 |
2024-05-08 |
Not clear |
| Jenna Damon, Colby Chase, Tomoyasu Higashimot. Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing. American journal of medical genetics. Part A. 2024-05-06. PMID:38709060. |
follow-up genetic evaluation via whole genome sequencing identified at least 100 ctg repeats in the dmpk gene, thus resulting in the diagnosis of myotonic dystrophy type 1. |
2024-05-06 |
2024-05-08 |
Not clear |
| Thiéry De Serres-Bérard, Dominic Jauvin, Valérie Pouliot, Jack Puymirat, Mohamed Chahin. Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy. Stem cell research. vol 77. 2024-05-05. PMID:38704930. |
congenital myotonic dystrophy (cdm) is a genetic disease caused by an abnormally long ctg repeat expansion in the dmpk gene, which generally increases in size following intergenerational transmission. |
2024-05-05 |
2024-05-08 |
Not clear |
| Larissa Nitschke, Thomas A Coope. Combinatorial effects of ion channel mis-splicing as a cause of myopathy in myotonic dystrophy. The Journal of clinical investigation. vol 134. issue 1. 2024-01-02. PMID:38165037. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant disorder caused by an unstable expanded ctg repeat located in the 3'-utr of the dm1 protein kinase (dmpk) gene. |
2024-01-02 |
2024-01-05 |
Not clear |
| Yunjung Rho, Jinmann Chon, Myung Chul Yoo, Ga Yang Shim, Sung Joon Chung, Yunsoo So. Acute cricopharyngeal achalasia after general anesthesia in myotonic dystrophy: A case report. Medicine. vol 102. issue 48. 2023-12-05. PMID:38050269. |
myotonic dystrophy type 1 (dm-1) is a progressive multisystem genetic disorder that causes myotonia and both distal limb and facial/neck muscle weakness by expanding the ctg repeats of the dmpk gene in chromosome 19q13.3. |
2023-12-05 |
2023-12-10 |
Not clear |
| Thiéry De Serres-Bérard, Dominic Jauvin, Jack Puymirat, Mohamed Chahin. Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A). Stem cell research. vol 72. 2023-10-23. PMID:37871474. |
congenital myotonic dystrophy (cdm) is an autosomal dominant multisystemic disorder attributed to a large expansion of ctg trinucleotide repeats within the myotonic dystrophy protein kinase (dmpk) gene. |
2023-10-23 |
2023-11-08 |
Not clear |
| Hans Zempe. Genetic and sporadic forms of tauopathies-TAU as a disease driver for the majority of patients but the minority of tauopathies. Cytoskeleton (Hoboken, N.J.). 2023-10-05. PMID:37795931. |
examples of the latter are myotonic dystrophy type 1 and type 2 (dm1, dm2, due to pathogenic genetic variants in the genes dmpk and cnbp, respectively), niemann-pick disease type c (npd, due to mutations in npc1 or npc2), kufs disease (cln6), christianson syndrome (slc9a6), familial forms of parkinson disease (pd), and many others. |
2023-10-05 |
2023-10-07 |
Not clear |
| Valeria Di Leo, Conor Lawless, Marie-Pier Roussel, Tiago B Gomes, Gráinne S Gorman, Oliver M Russell, Helen A L Tuppen, Elise Duchesne, Amy E Vincen. Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1. Journal of neuromuscular diseases. 2023-08-28. PMID:37638448. |
myotonic dystrophy type 1 (dm1) is a dominant autosomal neuromuscular disorder caused by the inheritance of a ctg triplet repeat expansion in the dystrophia myotonica protein kinase (dmpk) gene. |
2023-08-28 |
2023-09-07 |
Not clear |
| Curtis A Nutter, Benjamin M Kidd, Helmut A Carter, Johanna I Hamel, Philip M Mackie, Nayha Kumbkarni, Mackenzie L Davenport, Dana M Tuyn, Adithya Gopinath, Peter D Creigh, Łukasz J Sznajder, Eric T Wang, Laura P W Ranum, Habibeh Khoshbouei, John W Day, Jacinda B Sampson, Stefan Prokop, Maurice S Swanso. Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1. Brain : a journal of neurology. 2023-05-05. PMID:37143315. |
myotonic dystrophy type 1 is a dominantly inherited multisystemic disease caused by ctg tandem repeat expansions in the dmpk 3' untranslated region. |
2023-05-05 |
2023-08-14 |
mouse |
| Elisabetta Golini, Mara Rigamonti, Marcello Raspa, Ferdinando Scavizzi, Germana Falcone, Genevieve Gourdon, Silvia Mandill. Excessive rest time during active phase is reliably detected in a mouse model of myotonic dystrophy type 1 using home cage monitoring. Frontiers in behavioral neuroscience. vol 17. 2023-03-20. PMID:36935893. |
myotonic dystrophy type 1 (dm1) is a dominantly inherited neuromuscular disease caused by the abnormal expansion of ctg-repeats in the 3'-untranslated region of the dystrophia myotonica protein kinase (dmpk) gene, characterized by multisystemic symptoms including muscle weakness, myotonia, cardio-respiratory problems, hypersomnia, cognitive dysfunction and behavioral abnormalities. |
2023-03-20 |
2023-08-14 |
mouse |
| Francesco Pezzoli, Sara Parigi, Marco Moroni, Michele Sacchini, Giorgia Mancano, Andrea Zulli, Francesco Morini, Elena Sandini, Elettra Berti, Gabriella Gabbrielli, Lisa Serafini, Elisabetta Agostini, Angelo Azzarà, Letizia Padrini, Maria Luce Cioni, Anna Ingargiola, Letizia Petrucci, Filomena Paternoster, Serena Catarz. Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report. Acta bio-medica : Atenei Parmensis. vol 94. issue S1. 2023-03-08. PMID:36883684. |
background and aim myotonic dystrophy (dm) is a genetic disorder determined by an amplified trinucleotide ctg repeat in the untranslated region of the dmpk gene on chromosome 19q13.3. |
2023-03-08 |
2023-08-14 |
Not clear |
| Nafisa Neault, Aymeric Ravel-Chapuis, Stephen D Baird, John A Lunde, Mathieu Poirier, Emiliyan Staykov, Julio Plaza-Diaz, Gerardo Medina, Francisco Abadía-Molina, Bernard J Jasmin, Alex E MacKenzi. Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model. International journal of molecular sciences. vol 24. issue 4. 2023-02-25. PMID:36835205. |
myotonic dystrophy type 1 (dm1), the most common form of adult muscular dystrophy, is caused by an abnormal expansion of ctg repeats in the 3' untranslated region of the dystrophia myotonica protein kinase (dmpk) gene. |
2023-02-25 |
2023-08-14 |
mouse |
| Charles A Thornton, Richard Thomas Moxley, Katy Eichinger, Chad Heatwole, Laurence Mignon, W David Arnold, Tetsuo Ashizawa, John W Day, Gersham Dent, Matthew K Tanner, Tina Duong, Ericka P Greene, Laura Herbelin, Nicholas E Johnson, Wendy King, John T Kissel, Doris G Leung, Donovan J Lott, Daniel A Norris, Evan M Pucillo, Wendy Schell, Jeffrey M Statland, Nikia Stinson, Sub H Subramony, Shuting Xia, Kathie M Bishop, C Frank Bennet. Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. The Lancet. Neurology. vol 22. issue 3. 2023-02-21. PMID:36804094. |
antisense oligonucleotide targeting dmpk in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. |
2023-02-21 |
2023-08-14 |
Not clear |
| Charles A Thornton, Richard Thomas Moxley, Katy Eichinger, Chad Heatwole, Laurence Mignon, W David Arnold, Tetsuo Ashizawa, John W Day, Gersham Dent, Matthew K Tanner, Tina Duong, Ericka P Greene, Laura Herbelin, Nicholas E Johnson, Wendy King, John T Kissel, Doris G Leung, Donovan J Lott, Daniel A Norris, Evan M Pucillo, Wendy Schell, Jeffrey M Statland, Nikia Stinson, Sub H Subramony, Shuting Xia, Kathie M Bishop, C Frank Bennet. Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. The Lancet. Neurology. vol 22. issue 3. 2023-02-21. PMID:36804094. |
myotonic dystrophy type 1 results from an rna gain-of-function mutation, in which dm1 protein kinase (dmpk) transcripts carrying expanded trinucleotide repeats exert deleterious effects. |
2023-02-21 |
2023-08-14 |
Not clear |
| Jessica Stoodley, Francisco Vallejo-Bedia, David Seone-Miraz, Manuel Debasa-Mouce, Matthew J A Wood, Miguel A Varel. Application of Antisense Conjugates for the Treatment of Myotonic Dystrophy Type 1. International journal of molecular sciences. vol 24. issue 3. 2023-02-11. PMID:36769018. |
myotonic dystrophy type 1 (dm1) is one of the most common muscular dystrophies and can be potentially treated with antisense therapy decreasing mutant dmpk, targeting mirnas or their binding sites or via a blocking mechanism for mbnl1 displacement from the repeats. |
2023-02-11 |
2023-08-14 |
mouse |
| Ryu Kawada, Tatsuya Jonouchi, Akihiro Kagita, Masae Sato, Akitsu Hotta, Hidetoshi Sakura. Establishment of quantitative and consistent in vitro skeletal muscle pathological models of myotonic dystrophy type 1 using patient-derived iPSCs. Scientific reports. vol 13. issue 1. 2023-01-11. PMID:36631509. |
myotonic dystrophy type 1 (dm1) is caused by expanded ctg repeats (ctgexp) in the dystrophia myotonica protein kinase (dmpk) gene, and the transcription products, expanded cug repeats, sequester muscleblind like splicing regulator 1 (mbnl1), resulting in the nuclear mbnl1 aggregation in the dm1 cells. |
2023-01-11 |
2023-08-14 |
human |
| Kun Huang, Dan-Dan Wang, Wen-Bao Hu, Wei-Qian Zeng, Xia Xu, Qiu-Xiang Li, Fang-Fang Bi, Huan Yang, Jian Qi. Calcitriol increases MBNL1 expression and alleviates myotonic dystrophy phenotypes in HSA Journal of translational medicine. vol 20. issue 1. 2022-12-12. PMID:36510245. |
calcitriol increases mbnl1 expression and alleviates myotonic dystrophy phenotypes in hsa myotonic dystrophy type 1 (dm1), one of the most common forms of adult-onset muscular dystrophy, is caused by abnormally expanded ctg repeats in the 3' untranslated region of the dmpk gene. |
2022-12-12 |
2023-08-14 |
Not clear |
| Remco T P van Cruchten, Daniël van As, Jeffrey C Glennon, Baziel G M van Engelen, Peter A C 't Hoe. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood. BMC medicine. vol 20. issue 1. 2022-11-10. PMID:36352383. |
myotonic dystrophy type 1 (dm1) is an incurable multisystem disease caused by a ctg-repeat expansion in the dm1 protein kinase (dmpk) gene. |
2022-11-10 |
2023-08-14 |
Not clear |